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Items: 1 to 20 of 101

1.

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females.

MacDermot KD, Holmes A, Miners AH.

J Med Genet. 2001 Nov;38(11):769-75. No abstract available.

2.

Natural history of Fabry disease in affected males and obligate carrier females.

MacDermot KD, Holmes A, Miners AH.

J Inherit Metab Dis. 2001;24 Suppl 2:13-4; discussion 11-2. No abstract available.

PMID:
11758673
3.

Renal involvement in an Anderson-Fabry heterozygote.

Kingdon EJ, Holt SG, Burns A.

Postgrad Med J. 2002 Dec;78(926):759. No abstract available.

4.

Isolated cardiac manifestations in Fabry disease: the UK experience.

Sachdev B, Elliott PM.

Acta Paediatr Suppl. 2002;91(439):28-30.

PMID:
12572839
5.
6.

Clinical and genetic analysis of Fabry disease: report of six cases including three heterozygous females.

Nagasaki A, Nishie W, Sato K, Oba I, Noguchi E, Akitsu H, Sawamura D, Shimizu H.

J Dermatol Sci. 2008 Oct;52(1):61-4. doi: 10.1016/j.jdermsci.2008.04.009. No abstract available.

PMID:
18555667
7.

[Anderson-Fabry disease. Current status. Apropos of a case].

Vidal J, Pedragosa R, Serrano S, Valles M.

Med Cutan Ibero Lat Am. 1987;15(2):123-34. Spanish.

PMID:
2821332
8.

Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes.

Whybra C, Kampmann C, Willers I, Davies J, Winchester B, Kriegsmann J, Brühl K, Gal A, Bunge S, Beck M.

J Inherit Metab Dis. 2001 Dec;24(7):715-24.

PMID:
11804208
9.

Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype.

San Román-Monserrat I, Moreno-Flores V, López-Cuenca D, Rodríguez-González-Herrero E, Guillén-Navarro E, Rodríguez-González-Herrero B, Alegría-Fernández M, Poza-Cisneros G, Piñero-Fernández JA, Sornichero-Martínez J, Gimeno-Blanes JR.

Med Clin (Barc). 2014 Jun 6;142(11):497-504. doi: 10.1016/j.medcli.2014.01.032.

PMID:
24679964
10.

A case of multiple angiomas without any angiokeratomas in a female heterozygote with Fabry disease.

Mirceva V, Hein R, Ring J, Möhrenschlager M.

Australas J Dermatol. 2010 Feb;51(1):36-8. doi: 10.1111/j.1440-0960.2009.00590.x.

PMID:
20148840
11.

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population.

Dobrovolny R, Dvorakova L, Ledvinova J, Magage S, Bultas J, Lubanda JC, Elleder M, Karetova D, Pavlikova M, Hrebicek M.

J Mol Med (Berl). 2005 Aug;83(8):647-54.

PMID:
15806320
12.

Simultaneous multicystic kidney and Anderson-Fabry disease: 2 separate entities or same side of the coin.

Pisani A, Riccio E, Cianciaruso B, Imbriaco M.

J Nephrol. 2011 Nov-Dec;24(6):806-8. doi: 10.5301/jn.5000031.

PMID:
22058028
13.

[Molecular pathology and clinical manifestations of Fabry disease].

Rákóczi E, Görögh S, Grubits J, Erdos M, Garzuly F, Hahn K, Bencsik K, Vécsei L, Trinn C, Kristóf E, Mogyorósy G, Tóth B, Maródi L.

Orv Hetil. 2007 Jun 10;148(23):1087-94. Hungarian.

PMID:
17545117
14.

Immunofluorescence analysis of trihexosylceramide accumulated in the hearts of variant hemizygotes and heterozygotes with Fabry disease.

Itoh K, Takenaka T, Nakao S, Setoguchi M, Tanaka H, Suzuki T, Sakuraba H.

Am J Cardiol. 1996 Jul 1;78(1):116-7.

PMID:
8712102
15.

Disease manifestations and X inactivation in heterozygous females with Fabry disease.

Maier EM, Osterrieder S, Whybra C, Ries M, Gal A, Beck M, Roscher AA, Muntau AC.

Acta Paediatr Suppl. 2006 Apr;95(451):30-8.

PMID:
16720462
16.

[Angiokeratoma corporis diffusum (Anderson-Fabry disease)].

Zsambéky P, Schneider I, Fodor D, Kocsis Z, Klujber L.

Orv Hetil. 1983 Apr 24;124(17):1009-12. Hungarian. No abstract available.

PMID:
6408564
17.

Clinical presentation in female patients with Fabry disease.

Guffon N.

J Med Genet. 2003 Apr;40(4):e38. No abstract available.

18.

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock DG, Lemay RM, Germain DP; Fabry Registry..

Mol Genet Metab. 2008 Feb;93(2):112-28.

PMID:
18037317
19.

Anderson-Fabry disease. Three families detected in 2 years: unusual occurrence or good interdisciplinary collaboration?

Martinelli F, Bergesio F, Piperno R, Zanazzi M, Rosati A, Borsini W, Nencini P, Battini ML, Sodi A, Salvadori M.

Contrib Nephrol. 1997;122:185-8. No abstract available.

PMID:
9399063
20.

Depression in adults with Fabry disease: a common and under-diagnosed problem.

Cole AL, Lee PJ, Hughes DA, Deegan PB, Waldek S, Lachmann RH.

J Inherit Metab Dis. 2007 Nov;30(6):943-51.

PMID:
17994284
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